Variant report

Variant	esv3330121
Chromosome Location	chr16:33973509-33975828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 628 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375857912	chr16:33973512-33973513	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200576446	chr16:33973513-33973514	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368706851	chr16:33973514-33973515	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs1708813	chr16:33973516-33973517	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376812171	chr16:33973524-33973525	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372112421	chr16:33973525-33973526	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs71208210	chr16:33973528-33973529	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs71210023	chr16:33973529-33973530	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62031168	chr16:33973530-33973531	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530991045	chr16:33973531-33973532	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376472893	chr16:33973536-33973537	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369314916	chr16:33973537-33973538	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372792610	chr16:33973540-33973541	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77934020	chr16:33973543-33973544	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79624899	chr16:33973548-33973549	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs672722	chr16:33973550-33973551	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs4034040	chr16:33973555-33973556	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs62031169	chr16:33973556-33973557	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs75651593	chr16:33973557-33973558	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374877944	chr16:33973560-33973561	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561080295	chr16:33973561-33973562	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113354969	chr16:33973562-33973563	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369011735	chr16:33973575-33973576	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs62031170	chr16:33973581-33973582	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs71266223	chr16:33973585-33973586	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs71222347	chr16:33973590-33973591	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74517611	chr16:33973592-33973593	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs74211263	chr16:33973594-33973595	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372392856	chr16:33973601-33973602	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377737	chr16:33973606-33973607	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4033524	chr16:33973611-33973612	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs74221795	chr16:33973615-33973616	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113225830	chr16:33973616-33973617	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs535475	chr16:33973620-33973621	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528482677	chr16:33973621-33973622	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201075012	chr16:33973625-33973626	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs4033526	chr16:33973630-33973631	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs78171187	chr16:33973631-33973632	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77916088	chr16:33973632-33973633	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368928305	chr16:33973633-33973634	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs74197852	chr16:33973651-33973652	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs62031171	chr16:33973655-33973656	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs672212	chr16:33973656-33973657	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs112045899	chr16:33973657-33973658	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs74220551	chr16:33973664-33973665	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs74198264	chr16:33973665-33973666	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs62031172	chr16:33973669-33973670	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs74213874	chr16:33973674-33973675	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs62031173	chr16:33973675-33973676	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs36158704	chr16:33973679-33973680	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Ductal carcinoma	22052326	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:33958000-33979600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr16:33959600-33976400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr16:33959600-33979600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr16:33959800-33979800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:33962600-33979800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr16:33964200-33979800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr16:33964200-33979800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr16:33965200-33979600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:33966800-33979600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr16:33967000-33979800	ZNF genes & repeats	Liver	Liver
11	chr16:33967800-33976200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr16:33968000-33979400	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr16:33968200-33976000	ZNF genes & repeats	Brain Anterior Caudate	brain
14	chr16:33968200-33977200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:33969400-33979800	ZNF genes & repeats	Psoas Muscle	Psoas
16	chr16:33969600-33976000	ZNF genes & repeats	Fetal Brain Male	brain
17	chr16:33970600-33976000	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr16:33970600-33977000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:33970800-33976000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:33970800-33976000	ZNF genes & repeats	Left Ventricle	heart
21	chr16:33970800-33976200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr16:33970800-33976400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr16:33970800-33977000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr16:33970800-33977000	ZNF genes & repeats	Fetal Heart	heart
25	chr16:33970800-33977200	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr16:33970800-33978600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:33971000-33973600	Active TSS	Aorta	Aorta
28	chr16:33971000-33974200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:33971000-33975800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
30	chr16:33971000-33976000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr16:33971000-33976000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:33971000-33976200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr16:33971000-33976200	ZNF genes & repeats	Fetal Lung	lung
34	chr16:33971000-33976400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr16:33971000-33977000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
36	chr16:33971000-33977200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
37	chr16:33972200-33976000	ZNF genes & repeats	Brain Substantia Nigra	brain
38	chr16:33972400-33979600	ZNF genes & repeats	Dnd41	blood
39	chr16:33972800-33976000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:33973200-33976200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:33973400-33975400	ZNF genes & repeats	Right Ventricle	heart
42	chr16:33973400-33975600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr16:33973400-33975600	ZNF genes & repeats	HMEC	breast
44	chr16:33973400-33975600	ZNF genes & repeats	NHDF-Ad	bronchial
45	chr16:33973400-33975800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr16:33973400-33975800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
47	chr16:33973400-33975800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:33973400-33975800	ZNF genes & repeats	Brain Angular Gyrus	brain
49	chr16:33973400-33975800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
50	chr16:33973400-33975800	ZNF genes & repeats	Brain Hippocampus Middle	brain

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